Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.
- Kölble N Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koelble@fhk.usz.ch
- Wisser J
- Babcock D
- Maslen C
- Huch R
- Steinmann B
- 2002-10-18
Published in:
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - 2002
Adult
Calcium-Binding Proteins
DNA Mutational Analysis
Female
Fetal Diseases
Fibrillin-2
Fibrillins
Humans
Marfan Syndrome
Microfilament Proteins
Pregnancy
Ultrasonography, Prenatal
English
Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
- Language
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- English
- Open access status
- bronze
- Identifiers
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- DOI 10.1046/j.1469-0705.2002.00819.x
- PMID 12383326
- Persistent URL
- https://sonar.ch/global/documents/84800
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